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Silvia Racedo, Ph.D.

  • 248 Citations
  • 8 h-Index
20082018
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  • 2 Similar Profiles
DiGeorge Syndrome Medicine & Life Sciences
Oocytes Medicine & Life Sciences
In Vitro Oocyte Maturation Techniques Medicine & Life Sciences
Congenital Heart Defects Medicine & Life Sciences
Genes Medicine & Life Sciences
oocytes Agriculture & Biology
Proteasome Endopeptidase Complex Medicine & Life Sciences
Catenins Medicine & Life Sciences

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Publications 2008 2018

  • 248 Citations
  • 8 h-Index
  • 12 Article
4 Citations (Scopus)

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Hasten, E., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E., Emanuel, B. S., Morrow, B. E. & Racedo, S., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1847-1857 11 p.

Research output: Contribution to journal › Article

Heart Diseases
DiGeorge Syndrome
Embryonic Structures
Persistent Truncus Arteriosus
Synteny
40 Citations (Scopus)

Genetic drivers of kidney defects in the digeorge syndrome

Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., Deng, R., Racedo, S., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G. S., Bodria, M. & 62 others, Sampson, M. G., Gillies, C. E., Vega-Warner, V., Maiorana, M., Petrey, D. S., Honig, B., Lozanovski, V. J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., Van Wijk, J. A. E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E. H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J. M., Puri, P., Barton, D., Casolari, E., Furth, S. L., Warady, B. A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C. S., Drummond, I. A., D'Agati, V., Imamoto, A., Barasch, J. M., Hildebrandt, F., Kiryluk, K., Lifton, R. P., Morrow, B. E., Jeanpierre, C., Papaioannou, V. E., Ghiggeri, G. M., Gharavi, A. G., Katsanis, N. & Sanna-Cherchi, S., Feb 23 2017, In : New England Journal of Medicine. 376, 8, p. 742-754 13 p.

Research output: Contribution to journal › Article

DiGeorge Syndrome
Kidney
Zebrafish
Embryo Loss
Exome
6 Citations (Scopus)

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

Racedo, S., Hasten, E., Lin, M., Devakanmalai, G. S., Guo, T., Ozbudak, E. M., Cai, C. L., Zheng, D. & Morrow, B. E., Mar 1 2017, In : PLoS Genetics. 13, 3, e1006687.

Research output: Contribution to journal › Article

DiGeorge Syndrome
Catenins
embryo
embryo (animal)
outflow
4 Citations (Scopus)

LPA receptor activity is basal specific and coincident with early pregnancy and involution during mammary gland postnatal development

Acosta, D., Bagchi, S., Broin, P., Hollern, D., Racedo, S., Morrow, B. E., Sellers, R. S., Greally, J. M., Golden, A., Andrechek, E., Wood, T. & Montagna, C., Nov 3 2016, In : Scientific Reports. 6, 35810.

Research output: Contribution to journal › Article

Lysophosphatidic Acid Receptors
Human Mammary Glands
Pregnancy
Catenins
Somatomedins
21 Citations (Scopus)

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, E. E., Xie, M., Taylor, D., Sheridan, M. B., Guo, T., Racedo, S., McDonald-McGinn, D. M., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 11 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine- Suñer, D., Goldmuntz, E., Bassett, A. S., Morrow, B. E. & Emanuel, B. S., Mar 1 2016, In : Human Genetics. 135, 3, p. 273-285 13 p.

Research output: Contribution to journal › Article

DiGeorge Syndrome
Congenital Heart Defects
Genes
Thoracic Aorta
Single Nucleotide Polymorphism